Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ASB5_chr4_176208673_176274222	176218646	TATATATA others(183): Show TATATATATTTGTATGATATATAAATATATATATATTTGTATGATATATA AATATATATATATTTGTATGATATATACATTTGTATGATATATAAATATA TATATTTGTATGATATATAAATATATATATTTGTATGATATATAAATATA TATATTTGTATGATATATAAATATATATGTATGATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00733.hp1 others(45): Show HG00280.hp2 HG00408.hp1 HG00733.hp1 HG01071.hp1 HG01109.hp1 HG01256.hp1 HG01258.hp1 HG01516.hp1 HG01517.hp2 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02040.hp1 HG02273.hp2 HG02523.hp2 HG02622.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03017.hp1 HG03041.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03710.hp1 HG03831.hp1 HG04199.hp2 NA18612.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18960.hp1 NA18963.hp1 NA18966.hp2 NA18972.hp2 NA18982.hp1 NA18999.hp2 NA19000.hp2 NA19006.hp2 NA19062.hp2 NA19074.hp1 NA19081.hp1 NA19089.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0020	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 others(39): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0005g0123 a0001c0001t0005g0125 a0001c0001t0008g0085 a0001c0001t0008g0131 a0001c0001t0009g0129 a0001c0001t0014g0114 a0001c0001t0020g0363	48	408	0.1176	-190	c.671 others(17): Show c.671-1827_671-1638del	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
B4GALNT4_chr11_364499_387117	384901	ACACAGCT others(183): Show ACACAGCTGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGC AAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCC CAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAAC CCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 NA19240.hp2 HG03540.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0038 a0001c0003 a0002c0038	a0001c0003t0004 a0002c0038t0003 a0001c0003t0004 a0002c0038t0003	a0001c0003t0004g0017 a0002c0038t0003g0020 a0001c0003t0004g0017 a0002c0038t0003g0020	2	110	0.0182	-190	c.31 others(11): Show c.3110_*3299del	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		2785		chr11	TogoVar
BAIAP2_chr17_81030151_81122434	81053952	GCCCCTTG others(183): Show GCCCCTTGGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCTGGC CCCAAGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCGGGCCCC GTGGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCTGGCCCCAA GGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCGGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02109.hp1 HG02257.hp2 others(9): Show HG01496.hp1 HG02109.hp1 HG02257.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG03453.hp2 HG03471.hp2 HG03710.hp1 NA18906.hp1 NA18906.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0006 a0001c0001t0015 a0001c0001t0023 others(2): Show a0001c0001t0006 a0001c0001t0015 a0001c0001t0023 a0001c0004t0014 a0002c0002t0002	a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0001t0006g0227 others(9): Show a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0006g0319 a0001c0001t0006g0333 a0001c0001t0015g0221 a0001c0001t0015g0228 a0001c0001t0023g0222 a0001c0004t0014g0224 a0001c0004t0014g0229 a0002c0002t0002g0309 a0002c0002t0002g0310	12	374	0.0321	-190	c.130 others(15): Show c.130+214_130+403del	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BRSK2_chr11_1384934_1467689	1432053	CGGTCTGG others(183): Show CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0168 a0002c0002t0002g0168	1	347	0.0029	-190	c.92- others(15): Show c.92-3960_92-3771del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C2CD4C_chr19_400445_414147	404577	GGACGGGG others(183): Show GGACGGGGTCCTGCCCTGAGGGGTCTGAGGGGGAGACGGGTCCTGCCCTG AGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTCTGAGGGGGGG ACGGGTCCTGCCCCGAGGGGTGTGGAGGGGGGAACGGGGTCCTGCCCTGA GGGGTGTGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0027 a0001c0001t0031g0027	1	313	0.0032	-190	c.23 others(11): Show c.2329_*2518del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		867		chr19	TogoVar
C7orf50_chr7_992006_1143247	1128641	CGTCACCC others(183): Show CGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCCTGTCAC CCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCGCACCCTGTCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01255.hp1 NA20300.hp2 HG01123.hp1 HG01255.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0029 a0001c0001t0002 a0001c0001t0029	a0001c0001t0002g0228 a0001c0001t0002g0234 a0001c0001t0029g0225 a0001c0001t0002g0228 a0001c0001t0002g0234 a0001c0001t0029g0225	3	315	0.0095	-190	c.-1- others(15): Show c.-1-1445_-1-1256del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1128688	GTCACCCG others(183): Show GTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCCTGT CACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCGCACCCTGTCA CCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACC CGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0315 a0001c0001t0002g0315	1	324	0.0031	-190	c.-1- others(15): Show c.-1-1492_-1-1303del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1128715	GATCTCGG others(183): Show GATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCA TCTCGGCTCATCGCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTC GGCTCATCCCACCATCACCCGGGCTGGAGTGCAGTGGCGCC	G G	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	240	0.0042	-190	c.-1- others(15): Show c.-1-1519_-1-1330del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CACNG7_chr19_53904278_53948950	53921606	TCCCCAGG others(183): Show TCCCCAGGTCTGGTCATTGGTGGAGTCGTCCCCAGGTCTGGTCATTGGTG GACTTGCCCCAGGTCTGGTCATTGGTGGACTTGCCCCAGGTCTGGTCATT GGTGGAGCTGTCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTA TTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGGAGTTGTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	242	0.0041	-190	c.424 others(17): Show c.424+6105_424+6294del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CARMIL2_chr16_67640144_67662569	67643349	TTGCAGTG others(183): Show TTGCAGTGAACCAAGATCGCCCTACTGCACTCCAGCCTGGGCAACAAGAG CGAAGCTCTGTCTAAAATAATAATAATAATAATGATAATAATAATAATAA TAATTAGCCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCGGGA GACTGAGGCAGGAGAATTGCTGGAACCTGGGAGGCGGAGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	280	0.0036	-190	c.-18 others(11): Show c.-1897_-1708del	CARMIL2	ENSG00000159753.15	transcript	ENST00000334583.11	protein_coding		1794		chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88954379	CACCCAAG others(183): Show CACCCAAGACTCCTGACCCTACCCAAGACTCCTGACCCCACCCAAGGCTC CTGACCCCATCCAAGGCTCCTGACCCCAGCCAAGTGTCCTGACCCCAGCC AAGGCTCCTGACCCCGCCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGAC TCCACCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACCCT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	273	0.0037	-190	c.151 others(19): Show c.151+22088_151+22277del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88954742	CCCAAGGC others(183): Show CCCAAGGCTCCTGACCTCAGCCAAGACTCCTGACCCCACCCAAGGCTCCT GACCCCACCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGACCTCAGCCAA GGCTCCTGACCCCACCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACCC TACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0282 a0001c0001t0034g0282	1	281	0.0036	-190	c.151 others(19): Show c.151+21725_151+21914del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CD7_chr17_82309873_82322608	82319043	CGTGTGGA others(183): Show CGTGTGGACACGCGGGTGTGCAGAGACGGGTGCGTGTGGACACGTGCGTG TGTAGAGACGTGTGCGTGTGGACGTGCGTGTGCAGAGACGGGTGTGTGGA CACTTGTGTGTGCAGAGACGGGTGCGCGTGACTCCATGCATGTGTGCAGA GACGGGTGCATGTGGACACGCGTGTGTGCAGAGATGGATGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	-190	c.-17 others(11): Show c.-1738_-1549del	CD7	ENSG00000173762.8	transcript	ENST00000312648.8	protein_coding		1436		chr17	TogoVar
CDC42EP5_chr19_54460026_54478296	54472472	GCCCCTCC others(183): Show GCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGCCCTTCCTCCTC CCTCAGACCCAGGAGTCAAGATCCCCCCAGCCCCTCCTCCCTCAGACCCA GGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCC CCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAT	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	-190	c.-14 others(17): Show c.-142+402_-142+591del	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	1/2			chr19	TogoVar
CRACR2A_chr12_3610328_3758109	3747848	GCCCAGAA others(183): Show GCCCAGAAGGGCACAGAGCTCCACAGGCTCAGGGGTGCACCCAGAAGGGC ACAGAGTTCCACAGGCTCAGGGGTACACCCAGAAGGGCACAGAGCTCCAC AGGCTCAGGGGTGCACCCAGAAGGGCACAGAGTTCCACAGGCTCAGGGGT ACACCCAGAAGGGCACAGAGTTCCACAGGCTCAGGGGTGCA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01346.hp2 HG03225.hp1 HG01192.hp2 HG01346.hp2 HG03225.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0011 a0001c0001 a0011c0011	a0001c0001t0001 a0001c0001t0002 a0011c0011t0001 a0001c0001t0001 a0001c0001t0002 a0011c0011t0001	a0001c0001t0001g0170 a0001c0001t0002g0097 a0011c0011t0001g0098 a0001c0001t0001g0170 a0001c0001t0002g0097 a0011c0011t0001g0098	3	317	0.0095	-190	c.-38 others(19): Show c.-387+4977_-387+5166del	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	1/19			chr12	TogoVar
CROCC2_chr2_240901336_240998311	240923511	AACACTAA others(183): Show AACACTAACCCAGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCC CCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCGG CCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCA GTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCC	A A	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0058 a0058	a0058c0084 a0058c0084	a0058c0084t0001 a0058c0084t0001	a0058c0084t0001g0092 a0058c0084t0001g0092	1	345	0.0029	-190	c.488 others(16): Show c.488+902_488+1091del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSF2RA_chrX_1263814_1314935	1314336	CCCCACTG others(183): Show CCCCACTGCGCCTGCCCAACCCCACTGCATCTGCCCAACCACTCTGTGCC TGCCCAACCACACTGCACCTGCCTAACCGTACTGCACCTGCCCAACCGCA CTGCACTTGCCCAATTGCACTGCACCTGCCCAACCCCAATGCACCTACCC AACCCCACTGTGCCTGCCCAACCGCACTGCACCTGCCCAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0059 a0001c0002t0005g0059	1	155	0.0065	-190	c.48 others(11): Show c.4858_*5047del	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4402		chrX	TogoVar
CSNK1G2_chr19_1936172_1986338	1959535	CCCAGCAC others(183): Show CCCAGCACCTGTGCCACCTTTAGTGCCACCGTGGGTCCCCCAGCACCCGT CCCACCTTTAGTGCCACCCTGAGTCCCCCAGCACCCGTGCCACCTTTAGT GCCACCGTGGGTCCCCCAGCACCCGCCCCACCTTTAGTGCCACCGTGGGT CCCCCAGCACCCGTCCCACCTTTAGTGCCACCCTGAGTCCT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02486.hp2 others(9): Show HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02622.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03540.hp1 HG03579.hp2 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0001 a0001c0001t0018 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0018 a0001c0002t0002 a0004c0005t0002	a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0238 others(9): Show a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0238 a0001c0001t0001g0245 a0001c0001t0018g0240 a0001c0002t0002g0063 a0001c0002t0002g0237 a0001c0002t0002g0241 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0246 a0004c0005t0002g0062	12	380	0.0316	-190	c.-26 others(19): Show c.-265-9902_-265-9713del	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1959622	TGCCACCT others(183): Show TGCCACCTTTAGTGCCACCGTGGGTCCCCCAGCACCCGCCCCACCTTTAG TGCCACCGTGGGTCCCCCAGCACCCGTCCCACCTTTAGTGCCACCCTGAG TCCTCCAGCACCTGTGCCACCTTTAGTGCCACCGTGGGTCCCCCAGCACC CGTCCCACCTTTAGTGCCACCCTGGGTCCCCCAGCACCCGC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0023 a0002c0011t0023	a0002c0011t0023g0015 a0002c0011t0023g0015	1	224	0.0045	-190	c.-26 others(19): Show c.-265-9885_-265-9696del	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11			chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1967786	GCTCCTCC others(183): Show GCTCCTCCTTCCTCCCTCCTCCCCAGGCTGCCCCCGACCACCCTTCAGTT CTGCAGGTGGGGCTCCTCCCTCCTCCCTTCTCCCCAGGCTGCCCCCGACC ACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCTTCTCCCCAGGC TGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG00673.hp2 others(21): Show HG00639.hp2 HG00642.hp2 HG00673.hp2 HG01070.hp1 HG01123.hp1 HG01952.hp1 HG02071.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02698.hp1 HG02723.hp1 HG02970.hp2 HG03139.hp1 HG03579.hp1 NA18961.hp2 NA18984.hp2 NA18999.hp1 NA19003.hp1 NA19011.hp2 NA19057.hp2 NA19080.hp2 NA19088.hp2 NA19091.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0005c0010	a0001c0001t0001 a0001c0001t0021 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0021 a0001c0002t0002 a0002c0003t0003 a0005c0010t0001	a0001c0001t0001g0011 a0001c0001t0001g0048 a0001c0001t0001g0161 others(21): Show a0001c0001t0001g0011 a0001c0001t0001g0048 a0001c0001t0001g0161 a0001c0001t0001g0224 a0001c0001t0001g0282 a0001c0001t0001g0289 a0001c0001t0001g0302 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0325 a0001c0001t0001g0329 a0001c0001t0001g0334 a0001c0001t0001g0348 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0021g0352 a0001c0002t0002g0351 a0002c0003t0003g0155 a0005c0010t0001g0335	24	380	0.0632	-190	c.-26 others(19): Show c.-265-1714_-265-1525del	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSRNP3_chr2_165464698_165694407	165666347	AAAGGAAG others(183): Show AAAGGAAGGAAGGAAGGAAAGAGAGAGGAAGAAAGAGAGAGAGAGAAAGG AAGGAAGGGAGGAAAGAGAGAGAGGAAGAAAGAAAGACAGAGAGGAAGGA AGGGAGGAAAGAGAGAGAGGAAGAAAGAAAGACAGAGAGGAAGGAAGGGA GGAAAGAGAGAGAGGAAGAAAGAAAGACAGAGAGAGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18984.hp1 NA19009.hp2 others(1): Show NA18972.hp2 NA18984.hp1 NA19009.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0017 a0001c0002t0002 a0001c0004t0074 others(1): Show a0001c0001t0017 a0001c0002t0002 a0001c0004t0074 a0001c0004t0076	a0001c0001t0017g0089 a0001c0002t0002g0244 a0001c0004t0074g0088 others(1): Show a0001c0001t0017g0089 a0001c0002t0002g0244 a0001c0004t0074g0088 a0001c0004t0076g0021	4	241	0.0166	-190	c.408 others(17): Show c.408+8342_408+8531del	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTCF_chr16_67557526_67644177	67643349	TTGCAGTG others(183): Show TTGCAGTGAACCAAGATCGCCCTACTGCACTCCAGCCTGGGCAACAAGAG CGAAGCTCTGTCTAAAATAATAATAATAATAATGATAATAATAATAATAA TAATTAGCCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCGGGA GACTGAGGCAGGAGAATTGCTGGAACCTGGGAGGCGGAGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	166	0.0060	-190	c.54 others(11): Show c.5478_*5667del	CTCF	ENSG00000102974.16	transcript	ENST00000264010.10	protein_coding		4173		chr16	TogoVar
DGKB_chr7_14140049_14907751	14212185	ATGTTTTG others(183): Show ATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTG TGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTA CTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATG TTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCG	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02818.hp2 HG01993.hp1 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0009 a0001c0004t0002 a0001c0002t0009 a0001c0004t0002	a0001c0002t0009g0064 a0001c0004t0002g0134 a0001c0002t0009g0064 a0001c0004t0002g0134	2	138	0.0145	-190	c.212 others(21): Show c.2123-34224_2123-34035del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212217	TTTTACTC others(183): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTC TCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTT TGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATT TTACTCTCGTGTTTTGTGATATTTACTCTCATGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0137 a0001c0003t0001g0137	1	102	0.0098	-190	c.212 others(21): Show c.2123-34256_2123-34067del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DIP2C_chr10_269201_694668	417748	GGATAGGC others(183): Show GGATAGGCATCCCTGTCCACCTGCACCTGTCAGGGCTCGGATAGGCCTCC CTGTCCACCTGTTCCTGTCAGGGCGCGGACAGGCCTCCCTGTCCACCTGC ACCTGTCAGAGCTCGGACAGGCCTCCCTGTCCACCTGCACCTGTCAGGGC TCGGATAGGCCTCCCTGTCCACCTGTTCCTGTCAGGGCTTC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0078 a0001c0004t0003g0078	1	81	0.0123	-190	c.739 others(17): Show c.739+1127_739+1316del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DPP9_chr19_4670227_4728842	4671922	CATATATT others(183): Show CATATATTCACATATGTGAATATATATATTCATATATTCACATATGTGAA TATATATATTCATATATTCACATATGTGAATATATATATTCATATATTCA CATATGTGAATATATATTCATATATTCACATATGTGAATATATATTCATA TATTCATATATACTTATATATTCATATATTCATATATACTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG02040.hp1 HG02155.hp1 others(3): Show HG00597.hp1 HG02040.hp1 HG02155.hp1 NA18974.hp2 NA18998.hp2 NA19090.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0040 a0001c0004t0003g0080 a0001c0004t0003g0107 others(3): Show a0001c0004t0003g0040 a0001c0004t0003g0080 a0001c0004t0003g0107 a0001c0004t0003g0108 a0001c0004t0003g0111 a0001c0004t0003g0130	6	311	0.0193	-190	c.44 others(11): Show c.4452_*4641del	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		3304		chr19	TogoVar
EHMT1_chr9_137614005_137841127	137818931	CTGAGGGG others(183): Show CTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTTAGGGGCGCC GTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCC GATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	158	0.0063	-190	c.354 others(18): Show c.3540+831_3540+1020del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137818969	CTTAGGGG others(183): Show CTTAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCC GTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCC GATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGAT	C C	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	162	0.0062	-190	c.354 others(18): Show c.3540+833_3540+1022del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819313	GAGGGGCG others(183): Show GAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGT GTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCG TAGAGAGGCCGACTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGA CTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	168	0.0060	-190	c.354 others(19): Show c.3540+1273_3540+1462del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819411	CGTAGAGA others(183): Show CGTAGAGAGGCCGACTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCC GACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTTAGGGGCG CCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAG ACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACT	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	143	0.0070	-190	c.354 others(19): Show c.3540+1287_3540+1476del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERICH1_chr8_659200_736224	675569	GTGAGGAC others(183): Show GTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCG GCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGG CGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00609.hp2 others(61): Show HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01243.hp1 HG02004.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02300.hp2 HG02523.hp2 HG02630.hp2 HG02717.hp1 HG02738.hp1 HG02818.hp2 HG02886.hp2 HG02976.hp1 HG03195.hp1 HG03209.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 NA18612.hp2 NA18942.hp1 NA18950.hp2 NA18955.hp2 NA18956.hp1 NA18960.hp2 NA18980.hp2 NA18984.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19060.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp2 NA19085.hp2 NA19087.hp2 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0006c0008 a0009c0010 a0001c0001 a0006c0008 a0009c0010	a0001c0001t0001 a0001c0001t0002 a0006c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0006c0008t0001 a0009c0010t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(57): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0096 a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0002g0253 a0001c0001t0002g0292 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0363 a0001c0001t0002g0366 a0006c0008t0001g0169 a0009c0010t0002g0357	64	371	0.1725	-190	c.305 others(17): Show c.305-1712_305-1523del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675843	GTGAGGAC others(183): Show GTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCC CCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGG CGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGAC GCGGCGCCCCCCCGGCGAGGACAGAGACGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA21309.hp1 HG03540.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0179 a0001c0009t0001g0233 a0001c0001t0001g0179 a0001c0009t0001g0233	2	308	0.0065	-190	c.305 others(17): Show c.305-1986_305-1797del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675945	GCCCCTCG others(183): Show GCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGC GGCGCCCCCCCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGA GACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGA CAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGC	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	369	0.0027	-190	c.305 others(17): Show c.305-2088_305-1899del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
F10_chr13_113117799_113154529	113151454	TGAGCAGC others(183): Show TGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGTGATTCCG CCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGC AGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGTGATTCCGCCTGA GAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00642.hp1 others(29): Show HG00423.hp1 HG00558.hp1 HG00642.hp1 HG01346.hp1 HG02080.hp2 HG02155.hp1 HG02273.hp2 HG02523.hp1 NA18612.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp2 NA18951.hp2 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18972.hp2 NA18986.hp1 NA18990.hp1 NA18994.hp2 NA19003.hp1 NA19010.hp1 NA19056.hp2 NA19060.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0010 a0001c0002 a0004c0010	a0001c0002t0001 a0004c0010t0001 a0001c0002t0001 a0004c0010t0001	a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0032 others(28): Show a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0032 a0001c0002t0001g0053 a0001c0002t0001g0062 a0001c0002t0001g0096 a0001c0002t0001g0101 a0001c0002t0001g0103 a0001c0002t0001g0107 a0001c0002t0001g0127 a0001c0002t0001g0130 a0001c0002t0001g0154 a0001c0002t0001g0205 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0229 a0001c0002t0001g0241 a0001c0002t0001g0244 a0001c0002t0001g0253 a0001c0002t0001g0260 a0001c0002t0001g0267 a0001c0002t0001g0300 a0001c0002t0001g0317 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0333 a0001c0002t0001g0350 a0001c0002t0001g0369 a0004c0010t0001g0014	32	395	0.0810	-190	c.19 others(11): Show c.1938_*2127del	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		1926		chr13	TogoVar
FANCA_chr16_89732549_89821647	89745489	TCTGAGCT others(183): Show TCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGA ACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGA AGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACT CCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp1 others(180): Show HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0007 a0011 a0018 a0019 a0020 a0023 a0024 a0025 a0027 a0033 a0034 a0035 a0037 a0040	a0001c0001 a0001c0026 a0001c0030 others(26): Show a0001c0001 a0001c0026 a0001c0030 a0001c0033 a0001c0034 a0001c0052 a0002c0002 a0002c0035 a0002c0038 a0002c0041 a0002c0047 a0002c0051 a0003c0003 a0007c0009 a0007c0020 a0007c0057 a0011c0012 a0018c0017 a0019c0044 a0020c0039 a0023c0028 a0024c0042 a0025c0031 a0027c0037 a0033c0048 a0034c0032 a0035c0027 a0037c0025 a0040c0053	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0026t0001 a0001c0030t0001 a0001c0033t0006 a0001c0034t0001 a0001c0052t0001 a0002c0002t0001 a0002c0035t0001 a0002c0038t0001 a0002c0041t0001 a0002c0047t0001 a0002c0051t0001 a0003c0003t0001 a0007c0009t0001 a0007c0020t0001 a0007c0057t0001 a0011c0012t0001 a0018c0017t0001 a0019c0044t0001 a0020c0039t0001 a0023c0028t0001 a0024c0042t0001 a0025c0031t0001 a0027c0037t0001 a0033c0048t0001 a0034c0032t0001 a0035c0027t0001 a0037c0025t0003 a0040c0053t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0025 others(177): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0221 a0001c0001t0001g0240 a0001c0001t0002g0100 a0001c0001t0003g0041 a0001c0001t0003g0046 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0060 a0001c0001t0003g0102 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0173 a0001c0001t0003g0208 a0001c0001t0006g0063 a0001c0001t0006g0167 a0001c0001t0006g0169 a0001c0001t0006g0171 a0001c0001t0006g0209 a0001c0001t0010g0014 a0001c0001t0010g0036 a0001c0001t0010g0177 a0001c0001t0012g0126 a0001c0001t0016g0135 a0001c0026t0001g0024 a0001c0030t0001g0131 a0001c0033t0006g0170 a0001c0034t0001g0105 a0001c0052t0001g0210 a0002c0002t0001g0001 a0002c0002t0001g0023 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0055 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0093 a0002c0002t0001g0099 a0002c0002t0001g0110 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0119 a0002c0002t0001g0123 a0002c0002t0001g0125 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0192 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0215 a0002c0035t0001g0111 a0002c0038t0001g0078 a0002c0041t0001g0220 a0002c0047t0001g0083 a0002c0051t0001g0033 a0003c0003t0001g0302 a0007c0009t0001g0322 a0007c0009t0001g0323 a0007c0009t0001g0324 a0007c0009t0001g0326 a0007c0009t0001g0328 a0007c0020t0001g0003 a0007c0057t0001g0327 a0011c0012t0001g0004 a0011c0012t0001g0007 a0011c0012t0001g0008 a0018c0017t0001g0243 a0018c0017t0001g0276 a0019c0044t0001g0154 a0020c0039t0001g0183 a0023c0028t0001g0097 a0024c0042t0001g0042 a0025c0031t0001g0056 a0027c0037t0001g0300 a0033c0048t0001g0094 a0034c0032t0001g0071 a0035c0027t0001g0199 a0037c0025t0003g0179 a0040c0053t0001g0320	183	330	0.5545	-190	c.351 others(17): Show c.3514-608_3514-419del	FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	35/42			chr16	TogoVar
GAL3ST2_chr2_241771822_241809287	241805213	CTCCCCCT others(183): Show CTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	311	0.0032	-190	c.10 others(11): Show c.1048_*1237del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		927		chr2	TogoVar
GAS6_chr13_113815549_113869076	113831721	AGAGCATG others(183): Show AGAGCATGAACTAAACGGGGCAGGGGTCCCCGTCCCCCGGAGCATGAACT AAACGGGGCAGGGGTCCCCGTCCCCCGGAGCATGAACTAAACGGGGCAGG GGTCCCCGTCCCCCGGAGCATGAACTAAACGGGGCAGGGGTCCCCGTCCC CCGGAGCATGAACTAAACGGGGCAGGGGTCCCCGTCCCCCG	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04204.hp1 NA18522.hp1 HG04115.hp2 HG04204.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0047 a0001c0003t0001g0062 a0001c0003t0001g0005 a0001c0003t0001g0047 a0001c0003t0001g0062	3	77	0.0390	-190	c.114 others(17): Show c.1143+388_1143+577del	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	10/14			chr13	TogoVar
GCGR_chr17_81799150_81819008	81818737	CATAGTGA others(183): Show CATAGTGACTTGTGTGTGCACGCCAACACTACACGGCAGATAGTGACTTG TGTGTGCACGCCAACACTACACGGCAGATAGTGACTTGTGTGTGCACGCC AACACTACACGGCAGATAGTGACTTGTGTGTGCACGCCAACACTACACGG CAGATAGTGACTTGTGTGTGCACGCCAACACTACACGGCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00642.hp1 HG00741.hp1 others(49): Show HG00597.hp2 HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp2 HG01167.hp1 HG01192.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG02132.hp1 HG02155.hp2 HG02257.hp1 HG02300.hp1 NA18747.hp2 NA18943.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18959.hp2 NA18963.hp1 NA18964.hp2 NA18967.hp2 NA18977.hp2 NA18980.hp2 NA18988.hp1 NA18998.hp1 NA19000.hp1 NA19009.hp2 NA19011.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 a0001c0001t0001 a0001c0002t0002 a0001c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0046 a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0008 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0036 a0001c0002t0002g0076 a0001c0002t0002g0095 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0003t0002g0004 a0001c0003t0002g0020 a0001c0003t0002g0082 a0001c0003t0002g0083 a0001c0003t0002g0093	52	318	0.1635	-190	c.50 others(11): Show c.5049_*5238del	GCGR	ENSG00000215644.10	transcript	ENST00000400723.8	protein_coding		4730		chr17	TogoVar
GGT1_chr22_24598193_24633996	24605177	GTAATATA others(183): Show GTAATATATTATATAATATATAATATGTATTATATTATATATTATATAAT ATGTATTATATTATATATTATATAATATGTATTATATATTATATAATATG TATTATATATTATATAATATGTATTATATATTATATAATATGTATTATAT ATTATATAATATGTATTATATATTATATAATATGTATTATA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02922.hp2 HG02615.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0022 a0002c0011t0005 a0002c0002t0022 a0002c0011t0005	a0002c0002t0022g0243 a0002c0011t0005g0244 a0002c0002t0022g0243 a0002c0011t0005g0244	2	357	0.0056	-190	c.-42 others(19): Show c.-429+1653_-429+1842del	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GNG12_chr1_67696475_67838467	67709904	TTATATAG others(183): Show TTATATAGTTATATATATAGTTATATATATAGTTATATATATATAGTTAT ATATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTTAT ATATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTTAT ATATATATAGTTATATATATAGTTATATATATATAGTTATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG03139.hp2 others(3): Show HG02257.hp2 HG02451.hp1 HG03139.hp2 HG03516.hp2 NA18983.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0033 a0001c0001t0002 a0001c0001t0033	a0001c0001t0002g0004 a0001c0001t0002g0045 a0001c0001t0002g0172 others(3): Show a0001c0001t0002g0004 a0001c0001t0002g0045 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0235 a0001c0001t0033g0134	6	214	0.0280	-190	c.-26 others(17): Show c.-26-2382_-26-2193del	GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	2/3			chr1	TogoVar
GREM2_chr1_240484573_240617155	240562830	GTGTGTGT others(183): Show GTGTGTGTATATGAGTGTGTATGTGTGTATGTGTATATGTGAGTGTGTAT GTGTGTATGAGTGTGTATGTGTGTATGTATGTCTGTGAGTGTATGTGTAT GTGTGTGAGTGTGTGAGTGTGTATGTGTGTGAGTGTGTGTATGTGTGTAT ATGTAAGTGTGTATGTGTGTATATGTGAGTGTATGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA19240.hp1 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0050 a0001c0001t0023 a0001c0001t0050	a0001c0001t0023g0070 a0001c0001t0050g0111 a0001c0001t0023g0070 a0001c0001t0050g0111	2	376	0.0053	-190	c.-2+ others(17): Show c.-2+48864_-2+49053del	GREM2	ENSG00000180875.5	transcript	ENST00000318160.5	protein_coding	1/1			chr1	TogoVar
GRIN2A_chr16_9748408_10187428	9848683	TTTTAAAT others(183): Show TTTTAAATATATAAAATACACTGTTTTATAATATTTTAAATATATAAAAT ACACTGTTTTATAATATTTTAAATATATAAAATACACTGTTTTATATATT TAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACT GTTTTATATATTTAAATATATAAAATACACTGTTTTATATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00438.hp2 others(32): Show HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00642.hp1 HG00735.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01261.hp2 HG01358.hp1 HG01515.hp1 HG02055.hp2 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03486.hp2 HG03516.hp2 HG03704.hp2 HG04115.hp1 NA18960.hp1 NA18998.hp1 NA19043.hp2 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0001t0017 a0001c0002t0001 others(18): Show a0001c0001t0003 a0001c0001t0017 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 a0001c0002t0018 a0001c0002t0025 a0001c0002t0047 a0001c0002t0053 a0001c0002t0055 a0001c0002t0059 a0001c0002t0064 a0001c0002t0065 a0001c0002t0070 a0001c0004t0021	a0001c0001t0003g0042 a0001c0001t0017g0056 a0001c0002t0001g0040 others(32): Show a0001c0001t0003g0042 a0001c0001t0017g0056 a0001c0002t0001g0040 a0001c0002t0001g0094 a0001c0002t0001g0106 a0001c0002t0001g0131 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0160 a0001c0002t0001g0167 a0001c0002t0003g0087 a0001c0002t0005g0128 a0001c0002t0006g0013 a0001c0002t0006g0022 a0001c0002t0006g0093 a0001c0002t0007g0109 a0001c0002t0007g0134 a0001c0002t0007g0136 a0001c0002t0008g0161 a0001c0002t0009g0032 a0001c0002t0009g0073 a0001c0002t0009g0076 a0001c0002t0011g0089 a0001c0002t0012g0048 a0001c0002t0012g0150 a0001c0002t0018g0163 a0001c0002t0025g0110 a0001c0002t0047g0066 a0001c0002t0053g0008 a0001c0002t0055g0077 a0001c0002t0059g0075 a0001c0002t0064g0014 a0001c0002t0065g0137 a0001c0002t0070g0148 a0001c0004t0021g0074	35	130	0.2692	-190	c.132 others(18): Show c.1328+883_1328+1072del	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	5/12			chr16	TogoVar
GTPBP4_chr10_983434_1024932	1010966	CCCCTCCA others(183): Show CCCCTCCATCCTGACTGTGCCTCCTGCACCACCTTCCCCCCCACCCTGTG TCTCCGCCAGGCCCTGGATGGGCTCTGCTGTGCTGGGCCCTTCATTCTCC TGCATCCCTCCATCCTGACTGTGCCTCCTGCACCTCTTCCCCCCACCCCG AGACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCAT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02809.hp1 HG02965.hp1 others(3): Show HG02647.hp2 HG02809.hp1 HG02965.hp1 HG03098.hp1 HG03579.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0035 a0001c0002t0038 a0001c0002t0013 a0001c0002t0035 a0001c0002t0038	a0001c0002t0013g0026 a0001c0002t0013g0027 a0001c0002t0013g0098 others(2): Show a0001c0002t0013g0026 a0001c0002t0013g0027 a0001c0002t0013g0098 a0001c0002t0035g0252 a0001c0002t0038g0027	6	348	0.0172	-190	c.134 others(17): Show c.1344+467_1344+656del	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
HMGCLL1_chr6_55429373_55584192	55543186	ATAATATA others(183): Show ATAATATATTATATATTATATATTATATATTATATAATATATAATATAGA TATAATATAGATATATAATATATAATATAATATATCTATATTATATATAA TATATTATATATCATATATGATATATAATATATAATATATATTATATATC ATATATGATATATAATATGATATATTATATATTATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02896.hp1 HG02922.hp2 others(3): Show HG02257.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG03139.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0145 a0001c0001t0003g0153 a0001c0001t0003g0154 others(3): Show a0001c0001t0003g0145 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0012g0006	6	332	0.0181	-190	c.109 others(17): Show c.109-1236_109-1047del	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	1/8			chr6	TogoVar
IQGAP2_chr5_76398285_76713132	76699719	TTCTCTCT others(183): Show TTCTCTCTCTCTCTCTCTCACTCTCACTCTCGTGCTCTCTCTCTCTCCAT ATATAGTTCATTTGCTTCAGGCTTCTTTCTGTTTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCACTCTCGTGCTCTCTCTCTCTCC ATATATAGTTCATTTGCTTCAGGCTTCTTTCTGTTTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp2 HG01109.hp2 others(19): Show HG00738.hp1 HG01081.hp2 HG01109.hp2 HG01243.hp2 HG01891.hp1 HG02145.hp2 HG02148.hp2 HG02486.hp1 HG02572.hp2 HG02647.hp1 HG02818.hp2 HG02965.hp1 HG02976.hp2 HG03453.hp1 HG03453.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG04228.hp1 HG06807.hp1 NA19030.hp1 NA19062.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0012 a0019 a0023 a0028	a0001c0002 a0001c0009 a0001c0019 others(8): Show a0001c0002 a0001c0009 a0001c0019 a0002c0001 a0002c0006 a0003c0004 a0005c0008 a0012c0020 a0019c0024 a0023c0051 a0028c0027	a0001c0002t0002 a0001c0002t0005 a0001c0002t0014 others(13): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0014 a0001c0009t0006 a0001c0019t0001 a0002c0001t0002 a0002c0001t0003 a0002c0006t0002 a0002c0006t0003 a0003c0004t0002 a0003c0004t0005 a0005c0008t0002 a0012c0020t0001 a0019c0024t0002 a0023c0051t0002 a0028c0027t0010	a0001c0002t0002g0180 a0001c0002t0005g0053 a0001c0002t0014g0069 others(19): Show a0001c0002t0002g0180 a0001c0002t0005g0053 a0001c0002t0014g0069 a0001c0009t0006g0220 a0001c0019t0001g0125 a0002c0001t0002g0115 a0002c0001t0002g0162 a0002c0001t0003g0123 a0002c0001t0003g0189 a0002c0006t0002g0086 a0002c0006t0002g0098 a0002c0006t0003g0110 a0003c0004t0002g0203 a0003c0004t0002g0212 a0003c0004t0005g0014 a0003c0004t0005g0051 a0005c0008t0002g0103 a0005c0008t0002g0130 a0012c0020t0001g0217 a0019c0024t0002g0170 a0023c0051t0002g0112 a0028c0027t0010g0066	22	99	0.2222	-190	c.436 others(19): Show c.4368-1338_4368-1149del	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	33/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IYD_chr6_150364012_150410969	150372453	TGGGGGGT others(183): Show TGGGGGGTGGTGAGGGAACATTGTGTGTCCATGCTTATTAGACATGTGTG TGGGGGGGTGGGGTGGGGAGTGCTGAGGGGTCATGTTGTGTCCATGCTTA TTAGACATGTGTGTGTGTGGGCGGTGTGGGGGGTGGTGAGGGAACATTGT GTTGGTCCATGCTTGTTAGACATGTGTGTGTATGGGTGGGG	T T	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0223 a0001c0001t0078g0223	1	409	0.0024	-190	c.178 others(17): Show c.178+3245_178+3434del	IYD	ENSG00000009765.15	transcript	ENST00000344419.8	protein_coding	1/4			chr6	TogoVar
IYD_chr6_150364012_150410969	150372454	GGGGGGTG others(183): Show GGGGGGTGGTGAGGGAACATTGTGTGTCCATGCTTATTAGACATGTGTGT GGGGGGGTGGGGTGGGGAGTGCTGAGGGGTCATGTTGTGTCCATGCTTAT TAGACATGTGTGTGTGTGGGCGGTGTGGGGGGTGGTGAGGGAACATTGTG TTGGTCCATGCTTGTTAGACATGTGTGTGTATGGGTGGGGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(38): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00544.hp2 HG00609.hp2 HG00733.hp1 HG00738.hp1 HG01106.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp2 HG01517.hp1 HG01517.hp2 HG02074.hp1 HG02129.hp1 HG02135.hp1 HG02155.hp2 HG02257.hp2 HG02735.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp2 NA18964.hp2 NA18975.hp1 NA18987.hp1 NA18989.hp1 NA19001.hp1 NA19003.hp1 NA19057.hp1 NA19058.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0066 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0081 a0001c0001t0085 a0001c0001t0086 a0001c0001t0090	a0001c0001t0001g0002 a0001c0001t0001g0053 a0001c0001t0001g0054 others(28): Show a0001c0001t0001g0002 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0252 a0001c0001t0001g0261 a0001c0001t0002g0221 a0001c0001t0003g0056 a0001c0001t0003g0229 a0001c0001t0010g0002 a0001c0001t0034g0218 a0001c0001t0035g0002 a0001c0001t0035g0222 a0001c0001t0036g0212 a0001c0001t0066g0254 a0001c0001t0075g0230 a0001c0001t0076g0002 a0001c0001t0077g0002 a0001c0001t0081g0251 a0001c0001t0085g0053 a0001c0001t0086g0055 a0001c0001t0090g0002	41	412	0.0995	-190	c.178 others(17): Show c.178+3296_178+3485del	IYD	ENSG00000009765.15	transcript	ENST00000344419.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
LMF1_chr16_848634_975984	858963	GCAGTGGT others(183): Show GCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGCGTGTGC AGTGGTGTCACGGGACGGGTGTGAGTGATGTCACGGGACGGGTGTGAGTG GTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGATG TCTCGGGACGGGTGTGCACTGATGTCACGGGACGGGTGTGC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0013 a0013	a0013c0050 a0013c0050	a0013c0050t0001 a0013c0050t0001	a0013c0050t0001g0050 a0013c0050t0001g0050	1	267	0.0037	-190	c.153 others(19): Show c.1530-4447_1530-4258del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	953250	CACCCACC others(183): Show CACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCCAAACCA GCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCTTCCTACACG TTCACACAGACACGGACCCCAAACCAGCCTCCTACACGTCCACACAGACA CCCACCCCAAACCAGCCTCCTACACGTTCACACAGACACGG	C C	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	290	0.0034	-190	c.503 others(16): Show c.503+917_503+1106del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89389949	GAGAGAAG others(183): Show GAGAGAAGATCACTGGGGCGAACACCGAGTGTGGCGGGGAGCACCGAGAG AGAAGATCACTGGGGCGAACACCGAGTGTGACGGGGAGCACCGAGAGAAA GAAGATCACTGGGGCGAACACCGAGTGTGGCGGGGAGCACAGACAGAGAA GATCACTGGGGCGAACACCGAGTGTGGCGTGGAGCACAGAC	G G	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02647.hp2 NA18955.hp2 others(1): Show HG02056.hp1 HG02647.hp2 NA18955.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0105 a0001c0001t0001g0114 others(1): Show a0001c0001t0001g0084 a0001c0001t0001g0105 a0001c0001t0001g0114 a0001c0001t0001g0115	4	366	0.0109	-190	c.9+2 others(15): Show c.9+28145_9+28334del	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar

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